ClinVar Miner

List of variants in gene ALMS1 reported as benign for Alstrom syndrome

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Gene type:
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Total variants: 110
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HGVS dbSNP
NM_001378454.1(ALMS1):c.*154G>C
NM_001378454.1(ALMS1):c.*267T>A rs62149804
NM_001378454.1(ALMS1):c.10079-11C>T rs368250605
NM_001378454.1(ALMS1):c.10209T>A (p.Thr3403=) rs34617744
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn) rs34398445
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu) rs34071195
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly) rs746702722
NM_001378454.1(ALMS1):c.10335C>T (p.Pro3445=) rs78108069
NM_001378454.1(ALMS1):c.10464A>G (p.Val3488=) rs28730858
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn) rs11896293
NM_001378454.1(ALMS1):c.11117C>G (p.Ser3706Cys) rs533965968
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser) rs34927702
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala) rs28730849
NM_001378454.1(ALMS1):c.11481C>G (p.Ser3827Arg) rs549156484
NM_001378454.1(ALMS1):c.11523G>A (p.Glu3841=) rs35760114
NM_001378454.1(ALMS1):c.11601C>T (p.Phe3867=) rs80009262
NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=) rs147831309
NM_001378454.1(ALMS1):c.1174C>T (p.Arg392Cys) rs3813227
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524
NM_001378454.1(ALMS1):c.1182T>C (p.Tyr394=) rs139512700
NM_001378454.1(ALMS1):c.11872+18G>A rs139647347
NM_001378454.1(ALMS1):c.11873-12T>C rs1320374
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp) rs200897773
NM_001378454.1(ALMS1):c.12089G>A (p.Arg4030Lys) rs1052161
NM_001378454.1(ALMS1):c.12115-8del
NM_001378454.1(ALMS1):c.12175C>T (p.Leu4059=) rs1052162
NM_001378454.1(ALMS1):c.12298+5G>A rs371853987
NM_001378454.1(ALMS1):c.12362+16_12362+17del
NM_001378454.1(ALMS1):c.12362+18A>T rs535484933
NM_001378454.1(ALMS1):c.12363-18A>C
NM_001378454.1(ALMS1):c.12438G>T (p.Arg4146=) rs35902379
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile) rs45630557
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001
NM_001378454.1(ALMS1):c.1571CTC[1] (p.Pro525del) rs34628045
NM_001378454.1(ALMS1):c.1574_1576= (p.Pro525_Leu526=)
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg) rs41291187
NM_001378454.1(ALMS1):c.1899A>G (p.Gln633=) rs116033693
NM_001378454.1(ALMS1):c.2015T>G (p.Val672Gly) rs2037814
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=) rs7598901
NM_001378454.1(ALMS1):c.2319G>A (p.Leu773=) rs28730851
NM_001378454.1(ALMS1):c.2354A>G (p.Glu785Gly) rs17848880
NM_001378454.1(ALMS1):c.2416G>C (p.Val806Leu) rs138921247
NM_001378454.1(ALMS1):c.2535C>T (p.Asp845=) rs77517267
NM_001378454.1(ALMS1):c.2658A>G (p.Lys886=) rs80133984
NM_001378454.1(ALMS1):c.2661A>G (p.Val887=) rs76266696
NM_001378454.1(ALMS1):c.2730C>T (p.His910=) rs189923349
NM_001378454.1(ALMS1):c.2764C>T (p.Leu922=) rs143885319
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro) rs28730852
NM_001378454.1(ALMS1):c.3266C>G (p.Thr1089Arg) rs556855697
NM_001378454.1(ALMS1):c.3307C>G (p.Pro1103Ala) rs200257398
NM_001378454.1(ALMS1):c.36GGA[11] (p.Glu27_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[18] (p.Glu24_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[9] (p.Glu25_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36_74= (p.Leu12_Glu25=) rs55889738
NM_001378454.1(ALMS1):c.3894A>G (p.Gln1298=) rs112034360
NM_001378454.1(ALMS1):c.4134T>C (p.Ser1378=) rs200491758
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg) rs115517108
NM_001378454.1(ALMS1):c.4179A>G (p.Gln1393=) rs6546836
NM_001378454.1(ALMS1):c.4238G>C (p.Gly1413Ala) rs886038612
NM_001378454.1(ALMS1):c.4244G>C (p.Gly1415Ala) rs6546837
NM_001378454.1(ALMS1):c.4605A>G (p.Gln1535=) rs144720929
NM_001378454.1(ALMS1):c.4885C>T (p.Arg1629Trp) rs201874722
NM_001378454.1(ALMS1):c.4962G>T (p.Lys1654Asn) rs28730853
NM_001378454.1(ALMS1):c.5169A>G (p.Gln1723=) rs75434052
NM_001378454.1(ALMS1):c.5245A>G (p.Thr1749Ala) rs546111188
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp) rs45608038
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn) rs78039319
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=) rs62151609
NM_001378454.1(ALMS1):c.5620A>G (p.Lys1874Glu) rs886038614
NM_001378454.1(ALMS1):c.5626A>G (p.Ile1876Val) rs6546838
NM_001378454.1(ALMS1):c.5786G>A (p.Arg1929Gln) rs17009061
NM_001378454.1(ALMS1):c.6007A>G (p.Ile2003Val) rs7587103
NM_001378454.1(ALMS1):c.61del (p.Glu21fs) rs753006733
NM_001378454.1(ALMS1):c.6212T>C (p.Ile2071Thr) rs10496192
NM_001378454.1(ALMS1):c.6302C>T (p.Ser2101Leu) rs28730854
NM_001378454.1(ALMS1):c.6336T>A (p.Ser2112Arg) rs6724782
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly) rs58093963
NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser) rs77555300
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His) rs11889925
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly) rs28730855
NM_001378454.1(ALMS1):c.6854G>C (p.Arg2285Pro) rs6546839
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser) rs75145370
NM_001378454.1(ALMS1):c.72_74= (p.Glu24_Glu25=)
NM_001378454.1(ALMS1):c.74_75insGG (p.Glu27fs)
NM_001378454.1(ALMS1):c.764+20T>A rs1881246
NM_001378454.1(ALMS1):c.7724G>A (p.Ser2575Asn) rs3820700
NM_001378454.1(ALMS1):c.8017G>C (p.Asp2673His) rs2017116
NM_001378454.1(ALMS1):c.8481G>T (p.Arg2827Ser) rs2056486
NM_001378454.1(ALMS1):c.8487T>C (p.Asn2829=)
NM_001378454.1(ALMS1):c.8546G>A (p.Arg2849Lys) rs200009686
NM_001378454.1(ALMS1):c.8570A>G (p.Asn2857Ser) rs10193972
NM_001378454.1(ALMS1):c.8742A>G (p.Val2914=) rs142611294
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys) rs35062203
NM_001378454.1(ALMS1):c.8919G>A (p.Ala2973=) rs116854981
NM_001378454.1(ALMS1):c.8942A>G (p.Asn2981Ser)
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=) rs183390773
NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly) rs563393715
NM_001378454.1(ALMS1):c.9561C>T (p.Thr3187=) rs11884776
NM_001378454.1(ALMS1):c.975G>A (p.Ser325=) rs370267673
NM_001378454.1(ALMS1):c.9767C>G (p.Ser3256Cys) rs200922218
NM_001378454.1(ALMS1):c.9782-9C>T rs10199680
NM_001378454.1(ALMS1):c.9822C>G (p.Thr3274=) rs201446579
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala) rs58806616
NM_001378454.1(ALMS1):c.9907+20C>T rs74730457
NM_001378454.1(ALMS1):c.9914A>G (p.Asn3305Ser) rs142022233
NM_015120.4(ALMS1):c.1577_1579dup (p.Pro526_Leu527insPro) rs34628045

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